Biomedical subjects

Marta Cabrera

Publications and source records attributed to Marta Cabrera.

5 recordsLinked to original sources

PubMed2006

Beta2-microglobulin concentrations in cerebrospinal fluid correlate with neuroimaging findings in newborns with symptomatic congenital cytomegalovirus infection.

OVERVIEW: In newborns with symptomatic congenital cytomegalovirus (CMV) infection, neuroimaging is the best available predictor of neurodevelopmental outcome. Cerebrospinal fluid (CSF) findings in congenital CMV infection have seldom been described. Neonates with central nervous system infections present high CSF Beta(2)-microglobulin (beta(2)-m) levels. OBJECTIVES: The objectives of this study were: (1) to determine whether CSF beta(2)-m is increased in newborns with symptomatic congenital CMV infection, and (2) to examine its correlation with neuroimaging findings. MATERIALS AND METHODS: Fourteen newborns with symptomatic congenital CMV infection admitted to La Paz Hospital from 1990 through 2004 underwent determination of CSF beta(2)-m. Ninety-three newborns, constituting the comparison group, underwent CSF beta(2)-m determination as part of a sepsis or meningo/encephalitis work-up, and at discharge had sterile cultures and normal neurological status. Neuroimaging findings were scored according to a semiquantitative system: (0) no abnormalities; (1) single punctate periventricular (PV) calcification and/or hyperechogenic areas in the thalamus and basal ganglia; (2) multiple discrete PV calcifications and/or ventriculomegaly; and (3) extensive PV calcifications and/or brain atrophy. DISCUSSION AND CONCLUSION: CSF beta(2)-m was increased in newborns with CMV infection (median 6.21 mg/L) compared with controls (1.68 mg/L) (P<.001). beta(2)-m showed a correlation with neuroimaging scores (r (s)=0.753, P=.002). beta(2)-m was higher in patients who scored 2-3 (12.83 mg/L) than in patients who scored 0-1 (5.52 mg/L) (P=.028). CSF beta(2)-m is increased in newborns with symptomatic congenital CMV infection and correlates with neuroimaging abnormalities. beta(2)-m appears to be an indicator of the severity of brain involvement in congenital CMV infection.

Apgar Score↗

PubMed2006

Gastrointestinal quality of life after laparoscopic Roux-en-Y gastric bypass.

BACKGROUND: Laparoscopic Roux-en-Y gastric bypass (LRYGBP) is a commonly performed bariatric surgical procedure for the treatment of morbid obesity (MO). Obesity-related co-morbidities reduce the quality and expectancy of life. We assessed gastrointestinal quality of life in patients following LRYGBP. METHODS: The Gastrointestinal Quality of Life Index (GIQLI test) was used in this study. A higher score correlates with better quality of life. The GIQLI test was administered to 3 non-selected groups: 100 morbidly obese patients (MO group), 100 patients who had undergone LRYGBP (LRYGBP group); and a control group of 100 individuals (CO group). The CO group was composed of healthy individuals with a BMI<30 kg/m2, consecutively recruited among the companions of patients who came for a surgery consultation for obesity or other pathologies. Overall test and specific dimensions scores were evaluated for each group. RESULTS: Overall test and specific dimensions scores were significantly lower in patients with MO when compared to the CO and LRYGBP groups. There were no differences between the CO and LRYGBP groups in the overall score with regard to disease-specific digestive symptoms and the psychological and social dimensions. CONCLUSIONS: The quality of life of morbidly obese patients is worsened not only because of the presence of digestive symptoms but also because of their emotional, physical and social impact. Patients operated on by LRYGBP experience an improvement in their quality of life, with good tolerance of the anatomical changes.

Adult↗

PubMed2004

[Cyclospora cayetanensis in patients with AIDS and chronic diarrhea].

Cyclospora spp. is a protozoan parasite responsible for significant gastrointestinal disease in patients infected with the human immunodeficiency virus. We report the clinical features of two patients with chronic diarrhea and intestinal cyclosporosis caused by Cyclospora cayetanensis. The average value for CD4 count in these patients was lower than or equal to 100 cells/mm3. The oocysts were detected in smears from stool samples stained with modified acid-fast or safranin technique. Light microscopy revealed parasites in the enterocytes and these parasites were associated with villous atrophy. Cyclospora cayetanensis infection might be an important cause of diarrhea in patients with AIDS in Argentina.

Acquired Immunodeficiency Syndrome↗

PubMed2003

Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.

BACKGROUND: We report on a novel mutation (S270T) in the M2 domain of the GLRA1 (alpha subunit of the glycine receptor) gene causing autosomal dominant hyperekplexia in a neonate, the mother and maternal uncle. All affected members showed the typical clinical features of the disorder. This novel S270T (T1188A) mutation is located in the boundary of the transmembrane M2 domain of the GLRA1 protein, close to other previously reported mutations. Mutations in this 'hot spot' domain of GLRA1 are frequent in autosomal dominant hyperekplexia but are not usually seen in the autosomal recessive form of the disease in which both the M1 and the carboxy terminal domains have been implicated. METHODS: Genomic DNA was extracted by standard procedures from peripheral blood leukocytes and exon 6 of the GLRA1 gene was amplified using primers and PCR conditions. A complete sequence analysis of the fragment was performed. DNA sequences were analyzed both by direct observation of the electropherogram and by comparison with the published sequence. RESULTS: The proband had metabolic acidosis, which was probably related to continuous contractions of somatic muscles and intractable hypertonia. Data seem to show a direct relationship between the mechanism of inheritance of the disorder and the location of the molecular defect. The patients showed almost all the clinical signs of hyperekplexia: exaggerated startle response, muscle hypertonia in response to unexpected tactile and/or auditory stimuli, hyperexcitability, and sudden falls.

Amino Acid Sequence↗

PubMed2002

Identification of Echinococcus granulosus eggs.

The eggs from Echinococcus granulosus contaminate the environment spreading out the disease among the herbivorous. The differential diagnosis of the embriophores recovered from the soil is very difficult by morphologic and immunologic methods. In this paper we evaluate the EgO/DNA-IM1 for identification of E. granulosus oncosphere DNA and differentiation of eggs from other Taeniid. The positive result of the PCR technique shows an amplification fragment of the expected size (285 bp) corresponding to the partial sequence of the mitochondrial gene of the cytochrome oxidase CO1 from E. granulosus (391 bp). The fragment is not present in the DNA from Echinococcus multilocularis, Taenia hydatigena, Taenia saginata, Diphyll-obothrium latum, and Hymenolepis nana. It could be useful to rule out Taenia taeniformis, Taenia solium, Taenia pisiformis, and Taenia crassiceps, which sequences do not belong to the primer. We concluded that the PCR amplification employing the EgO/DNA-IM1 primer set showed high sensitivity and specificity for the identification of Echinococcus granulosus eggs.

Animals↗